Molecular and biochemical aspects of carnitine biosynthesis

Thesis

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Titlepage

Contents

Abbreviations

Chapter 1 Introduction

Chapter 2 Carnitine biosynthesis and transport in mammals

Chapter 3 Molecular and biochemical characterisation of rat 6-N-trimethyllysine, 2-oxoglutarate dioxygenase, the first enzyme of carnitine biosynthesis

Chapter 4 Molecular and biochemical characterisation of rat 4-N-trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human ALDH9 in carnitine biosynthesis

Chapter 5 Carnitine biosynthesis: identification of the cDNA encoding human 4-N-butyrobetaine, 2-oxoglutarate dioxygenase

Chapter 6 Synthesis of carnitine in full-term newborns from exogenous 6-N-trimethyllysine as determined by a novel method using HPLC-electrospray tandem mass spectrometry

Chapter 7 Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

Summary

Samenvatting voor iedereen

Dankwoord

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